Journal of molecular neuroscience : MNChildPreschoolFemaleHumansInfant
EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.
Sherif F Abdel-Ghafar, Amr E Ahmed, Eman T Mohammed, Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Maha S Zaki
Published: 202510.1007/s12031-025-02419-3
Abstract
Pathogenic variants in EPG5 have been associated with Vici syndrome (OMIM #242840) characterized by agenesis of the corpus callosum (ACC), cataracts, cardiomyopathy, hypopigmentation, and immunodeficiency as hallmark features. Additional variable fea…
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